Integrated Genetics/Laboratory Corporation of America - Submitter

Integrated Genetics/Laboratory Corporation of America (Laboratory Corporation of America), IG

General information

Integrated Genetics/Laboratory Corporation of America, IG
Laboratory Corporation of America
3400 Computer Drive, Suite 100
Westborough
Massachusetts
United States - 01581
https://www.integratedgenetics.com/
Organization ID: 500026

Personnel

Wenjie Chen, Staff
Phone: 508-389-8391
Email: Chenw5@LabCorp.com
Sabrina Gardner, Staff
Phone: 919-224-5692
Email: Gardns2@LabCorp.com

Assertion criteria

Level: Assertion criteria provided

LabCorp Variant Classification Summary - May 2015

Summary of submissions to ClinVar

Total submissions: 18507

Gene

Enter text to narrow down the list

Gene	Submissions	Last Updated
A2ML1	128	Dec 31, 2020
ABCA1	50	Dec 31, 2020
ABCA4	3	Apr 29, 2020
ABCB4	1	Dec 31, 2020
ABCC8	57	Dec 2, 2020
ABCC9	36	Nov 10, 2020
ABCD1	15	Aug 6, 2020
ABRAXAS1	56	Dec 2, 2020
ACAD9	1	Oct 6, 2020
ACADM	25	Dec 31, 2020
ACADVL	27	Dec 2, 2020
ACAT1	12	Jul 9, 2020
ACER3	2	Mar 6, 2020
ACSF3	2	Dec 31, 2020
ACSL4	2	Sep 9, 2020
ACTA2	8	Nov 10, 2020
ACTA2-AS1	3	Nov 10, 2020
ACTC1	26	Nov 10, 2020
ACTN2	29	Dec 31, 2020
ACYP1	1	Jan 25, 2018
ADA	19	Dec 31, 2020
ADA2	1	Dec 2, 2020
ADAMTS2	25	Apr 29, 2020
ADAMTSL2	1	Apr 29, 2020
ADAT3	2	Dec 31, 2020
ADGRG6	1	Jul 1, 2020
ADGRV1	1	Mar 6, 2020
ADRA2B	1	Mar 6, 2020
AFF2	2	Mar 6, 2020
AFF4	1	Aug 6, 2020
AGA	3	Dec 31, 2020
AGL	30	Oct 6, 2020
AGXT	20	Dec 2, 2020
AICDA	5	Jul 9, 2020
AIFM1	2	Jul 1, 2020
AIRE	26	Dec 31, 2020
AKAP9	50	Dec 31, 2020
AKT3	1	Mar 6, 2020
ALDH3A2	15	Sep 9, 2020
ALDOB	16	Dec 2, 2020
ALG11	1	Aug 18, 2011
ALG12	2	Oct 6, 2020
ALG13	1	Mar 6, 2020
ALG2	2	May 13, 2020
ALK	29	Dec 2, 2020
ALMS1	115	Dec 31, 2020
ALPL	24	Nov 10, 2020
AMT	3	Aug 6, 2020
ANK2	90	Dec 31, 2020
ANKRD1	11	Jan 25, 2018
ANKRD11	1	Mar 6, 2020
ANOS1	1	Oct 6, 2020
AOPEP	22	Oct 6, 2020
AP4B1	1	Mar 6, 2020
APBB1	2	Sep 24, 2019
APC	408	Dec 31, 2020
APOA1	7	Dec 2, 2020
APOA1-AS	5	Dec 2, 2020
APOA2	11	Dec 31, 2020
APOA5	8	Jan 25, 2018
APOB	12	Sep 9, 2020
APOC3	4	Aug 6, 2020
AQP2	6	Nov 17, 2015
ARID1A	1	Oct 6, 2020
ARSA	31	Dec 31, 2020
ARSB	13	Nov 10, 2020
ARSL	1	Apr 29, 2020
ARX	3	Mar 6, 2020
ASAH1	1	Apr 29, 2020
ASB11	1	Sep 9, 2020
ASL	13	Jul 9, 2020
ASPA	12	Apr 29, 2020
ASPM	3	Mar 6, 2020
ASS1	22	Aug 6, 2020
ASXL1	2	Apr 24, 2019
ATL1	1	Mar 6, 2020
ATM	608	Dec 31, 2020
ATN1	1	Apr 29, 2020
ATP13A2	1	Dec 2, 2020
ATP1A3	1	Mar 6, 2020
ATP1B1	7	Jul 9, 2020
ATP5MK	1	Oct 6, 2020
ATP7A	1	May 13, 2020
ATP7B	207	Dec 31, 2020
ATP8A2	2	Mar 6, 2020
ATP8B1	1	Apr 29, 2020
ATR	11	Jan 25, 2018
ATRX	5	Dec 31, 2020
AVIL	1	Dec 31, 2020
AVPR2	15	Nov 17, 2015
AXDND1	8	Jul 1, 2020
AXIN2	26	Aug 6, 2020
BAG3	22	Dec 31, 2020
BARD1	136	Dec 31, 2020
BBS1	16	Sep 9, 2020
BBS10	23	May 13, 2020
BBS2	23	Sep 9, 2020
BCHE	3	Jul 1, 2020
BCKDHA	11	Nov 10, 2020
BCKDHB	17	Aug 6, 2020
BCOR	1	Apr 24, 2019
BCORL1	2	May 13, 2020
BCS1L	5	Nov 10, 2020
BIVM-ERCC5	5	Mar 6, 2020
BLM	54	Dec 31, 2020
BMPR1A	56	Dec 31, 2020
BRAF	74	Dec 31, 2020
BRCA1	1093	Dec 31, 2020
BRCA2	1864	Dec 31, 2020
BRIP1	175	Dec 31, 2020
BTD	1	Mar 6, 2020
BTK	37	Apr 29, 2020
C11orf65	216	Dec 31, 2020
C12orf43	2	Nov 10, 2020
C8orf37	1	Apr 29, 2020
CACNA1A	1	Apr 29, 2020
CACNA1C	53	Dec 2, 2020
CACNA1C-AS1	22	Sep 9, 2020
CACNA1C-AS2	1	Jan 25, 2018
CACNA1E	1	Mar 6, 2020
CACNA1H	2	Dec 2, 2020
CACNA1S	8	Mar 6, 2020
CACNB2	17	Nov 10, 2020
CACNG2	1	Apr 29, 2020
CALR3	11	Jan 25, 2018
CAMK4	1	Jul 1, 2020
CASQ2	12	Apr 29, 2020
CASR	32	Dec 31, 2020
CAV3	9	Dec 2, 2020
CBL	47	Dec 31, 2020
CBS	39	Dec 31, 2020
CC2D2A	1	Dec 2, 2020
CCBE1	1	Mar 6, 2020
CCDC107	1	Mar 6, 2020
CCDC40	1	Jan 25, 2018
CD3D	1	Aug 18, 2011
CD3E	7	Apr 24, 2019
CD40	8	Nov 10, 2020
CD40LG	10	Nov 10, 2020
CDC73	6	Mar 6, 2020
CDH1	179	Dec 31, 2020
CDK13	1	May 13, 2020
CDK4	32	Dec 2, 2020
CDK5RAP1	1	Mar 6, 2020
CDKN2A	47	Dec 31, 2020
CEL	2	Apr 29, 2020
CENPF	2	Mar 6, 2020
CEP290	1	Dec 31, 2020
CEP85L	1	Mar 6, 2020
CFTR	636	Dec 31, 2020
CFTR-AS1	59	Dec 31, 2020
CHD4	1	Apr 29, 2020
CHD7	21	Mar 6, 2020
CHD8	1	Mar 6, 2020
CHEK1	3	Jan 25, 2018
CHEK2	148	Dec 31, 2020
CHPT1	2	Mar 6, 2020
CHRNA1	1	Dec 31, 2020
CHST14	1	Mar 6, 2020
CIC	4	Apr 29, 2020
CLCN1	1	Mar 6, 2020
CLCN4	1	Apr 29, 2020
CLCN7	1	May 13, 2020
CLN3	11	Dec 31, 2020
CLN5	7	Apr 29, 2020
CLN8	1	May 13, 2020
CLRN1	4	Apr 24, 2019
CLRN1-AS1	1	Jan 25, 2018
CNTN2	1	Dec 31, 2020
CNTNAP5	1	Nov 10, 2020
COBL	1	May 13, 2020
COL11A1	1	Apr 29, 2020
COL12A1	1	Mar 6, 2020
COL1A1	40	Dec 31, 2020
COL1A2	31	Mar 6, 2020
COL2A1	2	Apr 24, 2019
COL3A1	72	Dec 31, 2020
COL4A2	1	Mar 6, 2020
COL4A3	24	Nov 10, 2020
COL4A5	3	Dec 31, 2020
COL4A6	1	Mar 6, 2020
COL5A1	23	Jul 1, 2020
COL5A2	13	Mar 6, 2020
COL6A1	2	Apr 29, 2020
COL7A1	3	Mar 6, 2020
COL9A2	1	Jul 1, 2020
COL9A3	1	Apr 29, 2020
COQ9	1	May 22, 2020
COX15	3	Dec 2, 2020
CPLANE1	3	Apr 29, 2020
CPS1	16	Oct 6, 2020
CPT2	15	Nov 10, 2020
CRB2	1	Dec 31, 2020
CRBN	1	Mar 6, 2020
CREBBP	1	Mar 6, 2020
CRYBB1	1	Oct 6, 2020
CSF2RA	2	Mar 6, 2020
CSRP3	6	Sep 9, 2020
CTCF	2	Nov 10, 2020
CTF1	5	Apr 29, 2020
CTNS	17	Nov 10, 2020
CTSA	6	Oct 6, 2020
CTSB	1	Dec 31, 2020
CUX2	1	Mar 6, 2020
CYBB	24	Apr 29, 2020
CYP11B1	17	Oct 18, 2019
CYP1B1	2	Dec 31, 2020
CYP21A2	7	Dec 2, 2020
D2HGDH	1	Dec 2, 2020
DCLRE1B	1	Mar 6, 2020
DCLRE1C	5	Sep 24, 2019
DDX3X	1	May 13, 2020
DEAF1	1	Mar 6, 2020
DEPDC5	2	Apr 29, 2020
DES	13	Nov 10, 2020
DES-LCR	1	Nov 10, 2020
DGKE	2	Dec 31, 2020
DHCR7	34	Dec 31, 2020
DHDDS	1	Jan 25, 2018
DIAPH1	1	Dec 2, 2020
DICER1	1	Apr 29, 2020
DLD	4	Dec 31, 2020
DLG4	1	Jan 25, 2018
DLL3	1	Apr 24, 2019
DLL4	1	Oct 6, 2020
DMD	105	Dec 31, 2020
DNA2	1	Mar 6, 2020
DNAAF3	1	Aug 18, 2011
DNAH7	2	Mar 6, 2020
DNAJC19	3	Apr 29, 2020
DNASE1L1	1	Aug 18, 2011
DOCK3	2	Sep 9, 2020
DOK7	1	Apr 29, 2020
DPM2	1	Nov 10, 2020
DPP6	1	Dec 2, 2020
DPYD	15	Dec 31, 2020
DPYD-AS1	2	Sep 9, 2020
DSC2	42	Dec 2, 2020
DSCAS	1	Sep 9, 2020
DSG2	38	Dec 31, 2020
DSG2-AS1	14	Oct 6, 2020
DSP	116	Dec 31, 2020
DTNA	20	Sep 9, 2020
DUOX2	2	Apr 24, 2019
DYNC1H1	1	Dec 2, 2020
DYRK1A	4	Dec 2, 2020
EDNRB	1	Mar 6, 2020
EDNRB-AS1	1	Mar 6, 2020
EFEMP2	5	Jan 25, 2018
EFHC1	1	Mar 6, 2020
EFNB1	1	May 13, 2020
EFNB2	1	Mar 6, 2020
EHMT1	1	Dec 31, 2020
EIF2B2	2	Sep 9, 2020
ELN	1	Dec 2, 2020
ELP1	12	Mar 6, 2020
EMD	8	Dec 31, 2020
EP300	1	Dec 2, 2020
EPCAM	5	Oct 22, 2020
ERCC2	2	Jul 1, 2020
ERCC3	1	Apr 29, 2020
ERCC5	5	Mar 6, 2020
ERCC6	1	Dec 31, 2020
ERCC8	2	Dec 31, 2020
ERMARD	1	Apr 24, 2019
ETFDH	1	Mar 6, 2020
ETHE1	8	Dec 31, 2020
EXT1	1	Apr 24, 2019
EYA4	14	Dec 31, 2020
EYS	2	Oct 6, 2020
FAH	16	Nov 10, 2020
FAM20A	4	Mar 6, 2020
FANCC	40	Dec 2, 2020
FANCI	2	Mar 6, 2020
FAT4	2	May 13, 2020
FBN1	455	Dec 31, 2020
FBN2	18	Jan 25, 2018
FBXL3	7	Apr 29, 2020
FCN3	1	Nov 10, 2020
FCSK	2	Apr 29, 2020
FERMT3	1	Mar 6, 2020
FGD1	2	Apr 29, 2020
FGF23	2	Aug 18, 2011
FGFR1	1	Apr 29, 2020
FH	9	Jul 9, 2020
FKRP	1	May 13, 2020
FKTN	17	Dec 2, 2020
FLCN	13	Dec 31, 2020
FOXP1	3	Sep 9, 2020
FOXP2	1	Apr 24, 2019
FOXRED1	3	Oct 6, 2020
FRMPD4	1	Nov 10, 2020
FUCA1	6	Oct 6, 2020
G6PC1	22	Jul 1, 2020
GAA	123	Dec 2, 2020
GABRQ	1	Apr 29, 2020
GAL3ST4	1	Nov 10, 2020
GALC	31	Nov 10, 2020
GALNS	30	Dec 31, 2020
GALT	96	Dec 31, 2020
GAMT	7	Apr 29, 2020
GAREM2	11	Aug 6, 2020
GATAD1	6	Apr 29, 2020
GBA	62	Dec 2, 2020
GBA2	2	Dec 31, 2020
GBE1	1	May 13, 2020
GCDH	20	Mar 6, 2020
GCK	113	Dec 31, 2020
GDF5	1	Jul 1, 2020
GDI1	1	Sep 9, 2020
GEMIN5	1	Mar 6, 2020
GH-LCR	2	Apr 29, 2020
GH1	1	Aug 18, 2011
GHRHR	4	Aug 18, 2011
GINS3	2	Mar 6, 2020
GJB1	1	Jan 25, 2018
GJB2	89	Dec 31, 2020
GLA	141	Dec 31, 2020
GLB1	22	Dec 2, 2020
GLDC	20	Aug 6, 2020
GLI1	1	Apr 29, 2020
GLI2	1	Mar 6, 2020
GML	17	Oct 18, 2019
GNAI3	1	Apr 29, 2020
GNPTAB	30	Oct 6, 2020
GNS	1	Jan 25, 2018
GP9	1	Jul 1, 2020
GPAA1	1	Mar 6, 2020
GPC3	6	Apr 24, 2019
GPD1L	6	Jul 9, 2020
GREB1L	1	Apr 29, 2020
GRHPR	7	Mar 6, 2020
GRIN2A	1	Mar 6, 2020
GRIN2B	1	Mar 6, 2020
GRXCR1	1	Dec 2, 2020
GSS	6	Apr 29, 2020
GUF1	2	Dec 31, 2020
GUSB	8	Aug 6, 2020
HADHA	25	Nov 10, 2020
HADHB	2	Jul 9, 2020
HBB	255	Dec 31, 2020
HCFC1	1	Jul 1, 2020
HDAC2	1	Dec 31, 2020
HDAC8	3	Apr 29, 2020
HEPACAM	1	Mar 6, 2020
HEXA	52	Dec 31, 2020
HEXB	22	Dec 2, 2020
HFE	1	Apr 24, 2019
HFE-AS1	1	Apr 24, 2019
HGSNAT	19	Nov 10, 2020
HLCS	7	Sep 24, 2019
HMGCL	7	Dec 2, 2020
HNF1A	46	Dec 31, 2020
HNF1B	22	Nov 10, 2020
HNF4A	31	Dec 2, 2020
HOPX	4	Mar 6, 2020
HPS1	2	Nov 10, 2020
HRAS	32	Dec 2, 2020
HSD11B2	1	Aug 18, 2011
HSD17B4	9	Oct 6, 2020
HSD3B2	1	Jul 22, 2020
HSPG2	3	Jul 1, 2020
IDS	8	Mar 6, 2020
IDUA	44	Dec 2, 2020
IFNGR1	11	Mar 6, 2020
IFNGR2	4	Mar 6, 2020
IFT80	1	Dec 31, 2020
IGHMBP2	1	Apr 24, 2019
IKBKG	9	Aug 6, 2020
IL2RG	14	Oct 6, 2020
IL4I1	2	Mar 6, 2020
IL7R	9	Dec 2, 2020
INF2	1	Dec 31, 2020
INS	5	Nov 17, 2015
INS-IGF2	5	Nov 17, 2015
INSR	1	Dec 2, 2020
IRF2BPL	1	Dec 2, 2020
IRF8	1	Mar 6, 2020
ITPR1	1	Apr 24, 2019
JAG1	1	Apr 29, 2020
JAK3	18	May 13, 2020
JUP	41	Dec 2, 2020
KBTBD13	1	Dec 31, 2020
KCNC1	1	Mar 6, 2020
KCNE1	6	Aug 6, 2020
KCNE2	5	Mar 6, 2020
KCNH2	59	Dec 2, 2020
KCNJ11	4	Aug 18, 2011
KCNJ2	6	Apr 29, 2020
KCNK9	1	Mar 6, 2020
KCNQ1	54	Dec 31, 2020
KCNQ1-AS1	3	Mar 6, 2020
KCNQ1OT1	5	Mar 6, 2020
KDM3B	1	Mar 6, 2020
KDM5C	1	Dec 31, 2020
KDM6A	1	Dec 2, 2020
KIAA0586	1	Mar 6, 2020
KIF14	1	Mar 6, 2020
KIF1A	1	Oct 6, 2020
KIF5A	1	Apr 29, 2020
KIF7	1	Jul 1, 2020
KIRREL2	1	Mar 6, 2020
KLLN	16	May 13, 2020
KMT2C	2	Nov 10, 2020
KMT2E	1	Mar 6, 2020
KMT5B	1	Apr 29, 2020
KRAS	23	Dec 31, 2020
KRT14	1	Mar 6, 2020
L1CAM	4	Oct 6, 2020
LAMA2	2	Mar 6, 2020
LAMA3	5	Mar 6, 2020
LAMA5	1	Aug 6, 2020
LAMB3	22	Dec 2, 2020
LAMC2	6	Dec 31, 2020
LAMP2	5	Mar 6, 2020
LCT	2	Apr 29, 2020
LDB3	30	Dec 2, 2020
LDLR	188	Dec 31, 2020
LDLR-AS1	2	Sep 9, 2020
LDLRAP1	13	Dec 31, 2020
LEPR	3	Aug 18, 2011
LHCGR	3	Aug 18, 2011
LIG3	26	Dec 31, 2020
LMNA	30	Dec 31, 2020
LOC100507346	4	Jul 1, 2020
LOC101448202	5	Jul 1, 2020
LOC101927055	16	Dec 31, 2020
LOC101927318	5	Nov 17, 2015
LOC101928174	26	Nov 10, 2020
LOC102724058	21	Aug 6, 2020
LOC105378311	1	Apr 24, 2019
LOC106050102	4	Mar 6, 2020
LOC106099062	164	Dec 31, 2020
LOC106627981	59	Dec 2, 2020
LOC106736614	1	Aug 18, 2011
LOC106780800	7	Dec 2, 2020
LOC106799833	12	Sep 24, 2019
LOC107133510	253	Dec 31, 2020
LOC107303340	43	Dec 31, 2020
LOC107303343	2	Jul 1, 2020
LOC107652445	3	Aug 18, 2011
LOC107982234	4	Jul 1, 2020
LOC108491825	2	Jan 25, 2018
LOC109461484	1	Apr 29, 2020
LOC110006319	94	Nov 10, 2020
LOC110011216	3	Mar 6, 2020
LOC110121269	11	Nov 10, 2020
LOC110631417	1	Dec 2, 2020
LOC111674463	1	Sep 24, 2019
LOC111674472	68	Dec 31, 2020
LOC111674475	23	Mar 6, 2020
LOC111674477	21	Dec 2, 2020
LOC113633875	1	Jan 25, 2018
LOC113633877	3	Apr 24, 2019
LOC113664106	5	Apr 29, 2020
LOC113939944	5	Nov 10, 2020
LOC114827827	6	Dec 2, 2020
LOC114827850	1	Sep 9, 2020
LOC114827851	4	Sep 9, 2020
LOX	7	Jan 25, 2018
LPL	13	Sep 24, 2019
LRP5	3	Nov 17, 2015
LRPPRC	2	Oct 6, 2020
LRRC56	32	Dec 2, 2020
LZTR1	104	Dec 31, 2020
MACF1	1	Nov 10, 2020
MAGEL2	1	Aug 6, 2020
MAN2B1	21	Dec 31, 2020
MANBA	4	Mar 6, 2020
MAP2K1	31	Dec 31, 2020
MAP2K2	79	Dec 2, 2020
MAPRE2	1	Apr 24, 2019
MAX	2	Jan 25, 2018
MC2R	1	Dec 2, 2020
MC4R	8	Sep 24, 2019
MCOLN1	15	Aug 6, 2020
MCPH1	1	Mar 6, 2020
MEA1	1	Apr 24, 2019
MECP2	76	Dec 31, 2020
MED12	2	May 13, 2020
MED13L	1	Mar 6, 2020
MEFV	107	Dec 31, 2020
MEGF8	1	May 13, 2020
MEN1	27	Dec 31, 2020
MET	13	Apr 29, 2020
METTL5	1	Apr 29, 2020
MFF-DT	22	Nov 10, 2020
MHRT	9	May 13, 2020
MICU2	1	Apr 29, 2020
MID1	1	Apr 24, 2019
MIR3606	1	Jan 25, 2018
MIR3936HG	1	Jan 25, 2018
MITF	5	Sep 24, 2019
MKS1	1	Apr 24, 2019
MLH1	254	Dec 31, 2020
MMAA	7	Mar 6, 2020
MMAB	8	Nov 10, 2020
MMACHC	31	Dec 2, 2020
MMUT	39	Dec 2, 2020
MN1	2	Oct 6, 2020
MPL	7	Nov 10, 2020
MPZ	1	Jan 25, 2018
MRAS	9	Oct 6, 2020
MRE11	32	Mar 6, 2020
MSH2	338	Dec 31, 2020
MSH6	458	Dec 31, 2020
MTM1	1	Dec 2, 2020
MTTP	14	Oct 6, 2020
MUS81	1	Jan 25, 2018
MUTYH	126	Dec 31, 2020
MVK	1	Jan 25, 2018
MYBPC3	84	Dec 2, 2020
MYH11	87	Dec 31, 2020
MYH14	1	Dec 2, 2020
MYH6	83	Dec 31, 2020
MYH7	69	Dec 31, 2020
MYL2	15	Dec 31, 2020
MYL3	9	Oct 6, 2020
MYLK	76	Dec 31, 2020
MYLK-AS1	8	Dec 2, 2020
MYLK2	15	Dec 2, 2020
MYO1F	1	Mar 6, 2020
MYO7A	1	Dec 2, 2020
MYOT	1	Mar 6, 2020
MYOZ2	4	Jan 25, 2018
MYRF	1	Apr 29, 2020
MYT1L	1	Mar 6, 2020
NADSYN1	1	Jan 25, 2018
NAGA	2	Jul 1, 2020
NAGLU	18	Dec 31, 2020
NBN	130	Dec 31, 2020
NCOR2	1	Aug 6, 2020
NDE1	31	Dec 31, 2020
NDST1	1	Dec 31, 2020
NDUFAF2	5	Dec 31, 2020
NDUFS2	2	Mar 6, 2020
NDUFS4	5	Dec 2, 2020
NDUFS7	1	Apr 24, 2019
NDUFV1	2	Apr 24, 2019
NEB	99	Sep 9, 2020
NEDD4L	1	Mar 6, 2020
NEU1	3	Apr 29, 2020
NEXMIF	1	Dec 31, 2020
NF1	115	Dec 31, 2020
NF2	7	Mar 6, 2020
NFIB	1	Aug 6, 2020
NFIX	2	Mar 6, 2020
NFKB2	1	Apr 29, 2020
NKX2-1	1	Mar 6, 2020
NKX2-5	10	Mar 6, 2020
NLGN3	2	Apr 29, 2020
NME7	1	Nov 20, 2015
NOG	1	Mar 6, 2020
NOS1AP	11	Mar 6, 2020
NOTCH1	1	Jul 9, 2020
NOTCH3	1	Apr 29, 2020
NPC1	27	Oct 6, 2020
NPC2	4	Dec 31, 2020
NPHP4	1	Mar 6, 2020
NPHS1	39	Nov 10, 2020
NPHS2	20	Oct 6, 2020
NPPA	6	Dec 2, 2020
NPPA-AS1	6	Dec 2, 2020
NR0B1	2	Aug 18, 2011
NR2F1	1	Mar 6, 2020
NRAS	8	Oct 6, 2020
NRXN1	1	Mar 6, 2020
NSD1	1	Apr 24, 2019
NSDHL	1	Mar 6, 2020
NSUN2	2	Apr 29, 2020
NSUN6	14	Oct 6, 2020
NUP214	1	Mar 6, 2020
NUP62	2	Mar 6, 2020
OBSL1	1	Mar 6, 2020
OTC	17	Nov 10, 2020
OTOF	1	Oct 6, 2020
OTUD6B	2	Mar 6, 2020
PACS1	1	Mar 6, 2020
PAH	137	Dec 31, 2020
PALB2	232	Dec 31, 2020
PANK2	1	Dec 2, 2020
PCCA	19	Dec 31, 2020
PCCB	21	Dec 31, 2020
PCDH15	20	Jul 1, 2020
PCSK9	64	Dec 31, 2020
PDHA1	5	May 13, 2020
PDX1	14	Sep 24, 2019
PEX1	31	Oct 6, 2020
PEX10	4	Apr 29, 2020
PEX12	10	Dec 31, 2020
PEX2	5	Apr 24, 2019
PEX26	5	Mar 6, 2020
PEX6	22	Dec 31, 2020
PEX7	8	Nov 10, 2020
PHEX	7	Aug 18, 2011
PHF8	1	May 13, 2020
PHGDH	5	Apr 24, 2019
PHKA2	1	Apr 24, 2019
PHKA2-AS1	1	Apr 24, 2019
PHOX2B	7	Mar 6, 2020
PHOX2B-AS1	1	Jan 25, 2018
PIEZO2	1	Oct 6, 2020
PIGW	2	Dec 31, 2020
PIK3R1	1	Mar 6, 2020
PKHD1	133	Dec 31, 2020
PKP2	67	Dec 31, 2020
PLD1	1	Dec 31, 2020
PLEKHG2	1	Apr 24, 2019
PLN	1	Mar 6, 2020
PLUT	7	Sep 24, 2019
PMM2	39	Dec 2, 2020
PMP22	1	Mar 6, 2020
PMS2	319	Dec 31, 2020
PNKP	1	Apr 29, 2020
PNPLA8	2	Oct 6, 2020
POGZ	1	Dec 2, 2020
POLD1	53	Aug 6, 2020
POLE	85	Dec 2, 2020
POLR3B	1	Mar 6, 2020
POMGNT1	2	Dec 2, 2020
PON2	9	Dec 31, 2020
POU1F1	1	Aug 18, 2011
PPM1D	1	Mar 6, 2020
PPP2R5D	1	Apr 24, 2019
PPT1	12	Dec 31, 2020
PRF1	3	Aug 6, 2020
PRKAG2	23	Dec 2, 2020
PRKAR1A	38	Dec 31, 2020
PRKCG	1	Apr 29, 2020
PRMT7	1	Jul 1, 2020
PROP1	4	Aug 18, 2011
PRSS1	35	Dec 31, 2020
PSEN1	1	Jul 1, 2020
PTCH1	24	Dec 2, 2020
PTCHD1-AS	2	Aug 18, 2011
PTEN	74	Dec 31, 2020
PTPN11	93	Dec 31, 2020
PUF60	1	Mar 6, 2020
PUM1	1	Mar 6, 2020
PURA	1	Mar 6, 2020
RAB33A	2	Jul 1, 2020
RAD21	1	Nov 10, 2020
RAD50	55	Dec 31, 2020
RAD51C	84	Dec 31, 2020
RAD51D	76	Dec 2, 2020
RAD51L3-RFFL	76	Dec 2, 2020
RAF1	66	Dec 31, 2020
RAG1	12	May 13, 2020
RAG2	12	Dec 31, 2020
RAPSN	1	Aug 6, 2020
RASA2	45	Dec 31, 2020
RB1	16	Dec 2, 2020
RBM20	23	Dec 31, 2020
RELN	2	Apr 29, 2020
RET	20	Dec 31, 2020
RIF1	30	Apr 29, 2020
RIMS1	1	Nov 10, 2020
RIT1	17	Sep 9, 2020
RMRP	41	Dec 31, 2020
RNASEH2B	1	Mar 6, 2020
RNASEH2C	1	Apr 29, 2020
RPH3A	1	Mar 6, 2020
RPIA	2	Mar 6, 2020
RPL36A-HNRNPH2	141	Dec 31, 2020
RPS6KA3	1	Aug 6, 2020
RRAS	26	Dec 31, 2020
RTEL1	15	Sep 24, 2019
RTEL1-TNFRSF6B	15	Sep 24, 2019
RTN2	1	Apr 24, 2019
RUNX2	1	Mar 6, 2020
RYR1	9	Jul 1, 2020
RYR2	191	Dec 31, 2020
SACS	10	Dec 31, 2020
SBF1	2	Apr 24, 2019
SCAMP4	2	Dec 31, 2020
SCN1A	35	Dec 31, 2020
SCN1A-AS1	1	Dec 31, 2020
SCN1B	15	Nov 10, 2020
SCN2A	2	Dec 31, 2020
SCN4A	1	Apr 29, 2020
SCN4B	7	Sep 9, 2020
SCN5A	119	Dec 31, 2020
SCN9A	1	Dec 31, 2020
SDHAF2	1	Nov 10, 2020
SDHB	13	Dec 31, 2020
SDHC	2	Jan 25, 2018
SDHD	8	Apr 29, 2020
SERPINC1	1	Mar 6, 2020
SETD2	2	Mar 6, 2020
SETD5	1	Aug 6, 2020
SF3B1	1	Apr 29, 2020
SFTA3	1	Mar 6, 2020
SGCA	2	Mar 6, 2020
SGCD	8	May 13, 2020
SGSH	24	Jul 1, 2020
SH2D1A	3	Apr 24, 2019
SHOC2	23	Dec 2, 2020
SHOX	6	Mar 6, 2020
SIM1	1	Dec 2, 2020
SLC12A6	7	Dec 31, 2020
SLC17A5	13	Dec 2, 2020
SLC22A5	35	Oct 6, 2020
SLC25A1	2	Mar 6, 2020
SLC25A15	1	Oct 6, 2020
SLC25A20	8	Jul 1, 2020
SLC26A1	13	Apr 29, 2020
SLC26A11	1	Jul 1, 2020
SLC26A2	17	Nov 10, 2020
SLC26A4	1	Apr 29, 2020
SLC2A10	17	Dec 31, 2020
SLC34A3	8	Jan 25, 2018
SLC35A3	1	Jan 25, 2018
SLC37A4	18	Dec 31, 2020
SLC39A5	1	Oct 6, 2020
SLC6A19	1	Apr 29, 2020
SLC6A8	1	Apr 29, 2020
SLITRK1	1	Mar 6, 2020
SMAD3	9	Dec 2, 2020
SMAD4	51	Dec 2, 2020
SMARCA1	1	Mar 6, 2020
SMARCA2	2	Dec 31, 2020
SMARCA4	1	Apr 29, 2020
SMARCB1	5	Dec 2, 2020
SMC3	1	Apr 24, 2019
SMN1	39	Dec 2, 2020
SMN2	1	Apr 29, 2020
SMPD1	51	Dec 31, 2020
SNAPC5	6	Dec 31, 2020
SNHG14	1	Apr 29, 2020
SNTA1	17	Dec 31, 2020
SOS1	113	Dec 2, 2020
SOS2	70	Dec 2, 2020
SOX11	1	Mar 6, 2020
SPAST	1	Mar 6, 2020
SPATA22	12	Apr 29, 2020
SPECC1L	1	Dec 2, 2020
SPECC1L-ADORA2A	1	Dec 2, 2020
SPINK1	24	Dec 2, 2020
SPR	1	Mar 6, 2020
SPRED1	31	Dec 2, 2020
SPTAN1	1	Apr 24, 2019
SPTBN2	1	Mar 6, 2020
SRCAP	2	Oct 6, 2020
SRFBP1	1	Jan 25, 2018
SSUH2	2	Mar 6, 2020
STAG1	1	Apr 24, 2019
STAR	1	Aug 18, 2011
STAT3	27	Nov 10, 2020
STK11	96	Dec 2, 2020
STON1-GTF2A1L	3	Aug 18, 2011
STYXL2	1	Mar 6, 2020
SUFU	8	Apr 24, 2019
SUMF1	10	Dec 2, 2020
SUOX	2	Apr 29, 2020
SURF1	27	Oct 6, 2020
SYCE2	3	Mar 6, 2020
SYNE1	3	Mar 6, 2020
SYNGAP1	1	Mar 6, 2020
TAB2	1	Apr 29, 2020
TAF1	1	Mar 6, 2020
TAOK1	1	Mar 6, 2020
TARID	2	Apr 29, 2020
TAZ	4	Nov 10, 2020
TBCD	1	Mar 6, 2020
TBCK	2	Mar 6, 2020
TBX3	1	Apr 29, 2020
TBX5	8	Mar 6, 2020
TCAP	8	Nov 10, 2020
TCF4	1	May 13, 2020
TCIRG1	4	Aug 6, 2020
TGFB2	10	Dec 31, 2020
TGFB3	7	Dec 2, 2020
TGFBR1	22	Dec 31, 2020
TGFBR2	34	Dec 31, 2020
TGM1	1	Mar 6, 2020
TH	2	Dec 31, 2020
TH2-LCR	5	Dec 31, 2020
TH2LCRR	7	Dec 31, 2020
TLL1	1	Dec 31, 2020
TMCO1	1	Dec 2, 2020
TMEM127	2	Aug 6, 2020
TMEM216	6	Dec 2, 2020
TMEM43	28	Sep 9, 2020
TMEM50B	1	Aug 18, 2011
TMEM67	2	Sep 9, 2020
TMLHE	1	Mar 6, 2020
TMPO	16	Dec 31, 2020
TMPO-AS1	3	Nov 10, 2020
TMPPE	2	Apr 24, 2019
TMPRSS3	2	Aug 6, 2020
TNC	2	Dec 2, 2020
TNFRSF13B	14	Sep 9, 2020
TNNC1	4	Apr 24, 2019
TNNI3	17	May 13, 2020
TNNT1	1	Aug 18, 2011
TNNT2	24	Apr 29, 2020
TNXB	1	Nov 17, 2015
TOE1	2	Mar 6, 2020
TOP2B	1	Mar 6, 2020
TOPORS	1	Oct 6, 2020
TP53	86	Dec 31, 2020
TPM1	6	Mar 6, 2020
TPO	2	Mar 6, 2020
TPP1	13	Apr 29, 2020
TRAPPC9	1	Apr 29, 2020
TRB	35	Dec 31, 2020
TRIM59-IFT80	1	Dec 31, 2020
TRIO	1	Mar 6, 2020
TRNT1	1	Mar 6, 2020
TSC1	19	Apr 29, 2020
TSC2	35	Apr 29, 2020
TSEN54	2	Mar 6, 2020
TSPAN1	2	Dec 2, 2020
TSPAN31	14	Aug 6, 2020
TTC7A	2	Dec 31, 2020
TTN	622	Dec 31, 2020
TTN-AS1	312	Dec 31, 2020
TTPA	9	May 13, 2020
TTR	38	Mar 6, 2020
TUBB4A	1	Apr 24, 2019
TUBB6	1	Mar 6, 2020
TULP1	1	Aug 6, 2020
UBE3A	1	Apr 29, 2020
UBR1	1	Mar 6, 2020
UNC80	2	Mar 6, 2020
UNG	4	Mar 6, 2020
USH2A	9	Dec 2, 2020
USH2A-AS1	1	Dec 2, 2020
USP9X	1	Jul 1, 2020
VCL	20	Oct 6, 2020
VHL	77	Dec 31, 2020
VPS13B	23	Aug 6, 2020
VPS13C	2	Jul 1, 2020
WAS	20	Dec 31, 2020
WASHC4	2	Oct 6, 2020
WDFY3	1	Mar 6, 2020
WDPCP	1	Apr 29, 2020
WDR11	1	Mar 6, 2020
WDR26	2	Apr 29, 2020
WDR45	1	Mar 6, 2020
WDR62	2	Apr 29, 2020
WT1	7	Jul 1, 2020
WWOX	1	Mar 6, 2020
XPA	8	Sep 9, 2020
XPC	22	Dec 31, 2020
ZAP70	6	Dec 2, 2020
ZDHHC24	10	Sep 9, 2020
ZDHHC9	1	Mar 6, 2020
ZFPM1	1	Oct 6, 2020
ZNF711	1	May 13, 2020
ZNHIT3	1	Dec 2, 2020

Condition

Enter text to narrow down the list

Name	Submissions	Last Updated
3-Methylglutaconic aciduria type 2	1	Aug 18, 2011
Abetalipoproteinaemia	5	Oct 6, 2020
Achondrogenesis type II	2	Apr 24, 2019
Adrenoleukodystrophy	12	May 13, 2020
Agenesis of the corpus callosum with peripheral neuropathy	3	Mar 6, 2020
Aicardi Goutieres syndrome	1	Mar 6, 2020
Alkaline ceramidase 3 deficiency	1	Mar 6, 2020
Alpha thalassemia-X-linked intellectual disability syndrome	2	Nov 10, 2020
Alpha-N-acetylgalactosaminidase deficiency type 2	1	Jul 1, 2020
Alport syndrome 1, X-linked recessive	3	Dec 31, 2020
Alport syndrome, autosomal recessive	13	Nov 10, 2020
Alstrom syndrome	3	Dec 2, 2020
Alzheimer disease, type 3	1	Jul 1, 2020
Amyloid Cardiomyopathy, Transthyretin-related	1	Aug 18, 2011
Amyloidogenic transthyretin amyloidosis	20	Mar 6, 2020
Antithrombin III deficiency	1	Mar 6, 2020
Apparent mineralocorticoid excess	1	Aug 18, 2011
Argininosuccinate lyase deficiency	11	Jul 9, 2020
Arrhythmogenic right ventricular cardiomyopathy	9	Sep 24, 2019
Arthrogryposis, mental retardation, and seizures	1	Jan 25, 2018
Aspartylglucosaminuria	3	Dec 31, 2020
Asphyxiating thoracic dystrophy 2	1	Dec 31, 2020
Ataxia-telangiectasia syndrome	102	Dec 31, 2020
Ataxia-telangiectasia-like disorder	1	Mar 6, 2020
Atrial septal defect	1	Nov 20, 2015
Atrial septal defect 7 with or without atrioventricular conduction defects	2	Aug 18, 2011
Atrial septal defect-atrioventricular conduction defects syndrome	1	Apr 11, 2018
Autosomal dominant epilepsy	8	Dec 31, 2020
Autosomal dominant hypophosphatemic rickets	2	Aug 18, 2011
Autosomal dominant isolated somatotropin deficiency	1	Aug 18, 2011
Autosomal recessive DOPA responsive dystonia	1	Dec 31, 2020
Autosomal recessive polycystic kidney disease	56	Dec 31, 2020
BH4-deficient hyperphenylalaninemia A	3	Dec 31, 2020
Bardet-Biedl syndrome	34	Sep 9, 2020
Bardet-Biedl syndrome 10	5	Mar 6, 2020
Bardet-Biedl syndrome 2	4	Apr 24, 2019
Bernard Soulier syndrome	1	Jul 1, 2020
Beta thalassemia intermedia	6	Oct 6, 2020
Beta thalassemia major	4	Oct 22, 2020
Beta-D-mannosidosis	4	Mar 6, 2020
Beta-thalassemia dominant	1	Apr 29, 2020
Beta-thalassemia, dominant inclusion body type	1	Aug 18, 2011
Bifunctional peroxisomal enzyme deficiency	8	Oct 6, 2020
Biotinidase deficiency	1	Mar 6, 2020
Birt-Hogg-Dubé Syndrome	2	May 13, 2020
Bloom syndrome	23	Dec 31, 2020
Bohring-Opitz syndrome	2	Apr 24, 2019
Bosch-Boonstra-Schaaf optic atrophy syndrome	1	Mar 6, 2020
Brugada syndrome (shorter-than-normal QT interval)	7	Nov 10, 2020
CC2D2A-Related Disorders	1	Dec 2, 2020
CHARGE association	2	Apr 24, 2019
Canavan Disease, Familial Form	12	Apr 29, 2020
Cardiac arrhythmia	53	Dec 31, 2020
Cardiac valvular defect, developmental	1	Dec 31, 2020
Cardio-facio-cutaneous syndrome	8	Dec 31, 2020
Cardiomyopathy	108	Dec 31, 2020
Cardiovascular phenotype	35	Sep 24, 2019
Carney complex	1	Dec 2, 2020
Carnitine acylcarnitine translocase deficiency	6	Jul 1, 2020
Carnitine palmitoyltransferase II deficiency	10	Sep 9, 2020
Catecholaminergic polymorphic ventricular tachycardia	1	Apr 29, 2020
Ceroid lipofuscinosis neuronal 2	3	Apr 29, 2020
Charcot-Marie-Tooth disease type 4	1	Apr 24, 2019
Charcot-Marie-Tooth disease, axonal, type 2S	1	Apr 24, 2019
Charlevoix-Saguenay spastic ataxia	8	Dec 31, 2020
Cholesterol monooxygenase (side-chain cleaving) deficiency	1	Aug 18, 2011
Chronic granulomatous disease, X-linked	18	Apr 29, 2020
Citrullinemia type I	16	May 13, 2020
Cleidocranial dysostosis	1	Mar 6, 2020
Cobalamin C disease	24	Nov 10, 2020
Cockayne syndrome	2	Dec 31, 2020
Coenzyme Q10 deficiency, primary, 5	1	May 22, 2020
Coffin-Lowry syndrome	1	Aug 6, 2020
Coffin-Siris syndrome	1	Dec 2, 2020
Cohen syndrome	18	Aug 6, 2020
Combined cellular and humoral immune defects with granulomas	1	Nov 20, 2015
Combined deficiency of sialidase AND beta galactosidase	2	Oct 6, 2020
Combined malonic and methylmalonic aciduria	2	Dec 31, 2020
Common variable agammaglobulinemia	1	Jul 1, 2020
Common variable immunodeficiency	1	Apr 29, 2020
Common variable immunodeficiency 2	3	Aug 18, 2011
Congenital adrenal hyperplasia	23	Dec 2, 2020
Congenital adrenal hypoplasia, X-linked	2	Aug 18, 2011
Congenital amegakaryocytic thrombocytopenia	7	Nov 10, 2020
Congenital bilateral aplasia of vas deferens from CFTR mutation	12	Sep 9, 2020
Congenital disorder of glycosylation type 1u	1	Nov 10, 2020
Congenital disorder of glycosylation, type Ia	33	Dec 2, 2020
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	1	May 13, 2020
Congenital heart disease	2	Nov 20, 2015
Congenital heart disease (variable)	3	Mar 6, 2020
Congenital hyperammonemia, type I	9	Oct 6, 2020
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	2	Oct 6, 2020
Congenital muscular dystrophy, LMNA-related	1	Nov 20, 2015
Congenital myasthenic syndrome	1	Apr 29, 2020
Congenital myotonia, autosomal recessive form	1	Mar 6, 2020
Cornelia de Lange syndrome 5	2	Mar 6, 2020
Costello syndrome	4	Dec 2, 2020
Cowden syndrome	8	Apr 29, 2020
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	1	Dec 2, 2020
Craniofrontonasal syndrome	1	May 13, 2020
Cutaneous malignant melanoma 8	1	Sep 24, 2019
Cystic fibrosis	213	Dec 31, 2020
Cystinosis	12	Nov 10, 2020
D-2-hydroxyglutaric aciduria 1	1	Dec 2, 2020
Deafness, autosomal recessive 1A	47	Dec 31, 2020
Deafness, autosomal recessive 25	1	Dec 2, 2020
Deafness, autosomal recessive 8	2	Aug 6, 2020
Deafness, autosomal recessive 9	1	Oct 6, 2020
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	50	Dec 31, 2020
Deficiency of acetyl-CoA acetyltransferase	9	Jul 9, 2020
Deficiency of alpha-mannosidase	15	Dec 31, 2020
Deficiency of butyrylcholine esterase	3	Jul 1, 2020
Deficiency of guanidinoacetate methyltransferase	6	Apr 29, 2020
Deficiency of hydroxymethylglutaryl-CoA lyase	7	Dec 2, 2020
Deficiency of iodide peroxidase	2	Mar 6, 2020
Deficiency of ribose-5-phosphate isomerase	2	Mar 6, 2020
Dihydropyrimidine dehydrogenase deficiency	10	Dec 31, 2020
Dilated cardiomyopathy 1B	6	Dec 31, 2020
Dopa-responsive dystonia due to sepiapterin reductase deficiency	1	Mar 6, 2020
Dyskeratosis congenita	8	Sep 24, 2019
Dystrophic epidermolysis bullosa	1	Mar 6, 2020
Dystrophinopathies	40	Dec 31, 2020
Early-onset coronary artery disease	3	Jul 9, 2020
Ectodermal dysplasia and immunodeficiency 1	7	Jan 25, 2018
Ectopia lentis, isolated, autosomal dominant	1	Aug 18, 2011
Ehlers-Danlos syndrome dermatosparaxis type	1	Jan 25, 2018
Ehlers-Danlos syndrome, musculocontractural type	1	Mar 6, 2020
Ehlers-Danlos syndrome, type 4	6	Dec 2, 2020
Emery-Dreifuss muscular dystrophy	1	Dec 31, 2020
Emery-Dreifuss muscular dystrophy 4, autosomal dominant	1	Mar 6, 2020
Epilepsy, focal, with speech disorder and with or without mental retardation	1	Mar 6, 2020
Erythrocytosis, familial, 2	1	Dec 2, 2020
Ethylmalonic encephalopathy	6	Dec 31, 2020
Fabry disease	109	Dec 31, 2020
Familial Mediterranean fever	26	May 13, 2020
Familial X-linked hypophosphatemic vitamin D refractory rickets	7	Aug 18, 2011
Familial aortopathy	26	Jul 9, 2020
Familial cancer of breast	39	May 13, 2020
Familial dysautonomia	2	Jan 25, 2018
Familial hemophagocytic lymphohistiocytosis	3	Aug 6, 2020
Familial hypercholesterolemia	97	Dec 31, 2020
Familial hypercholesterolemia 1	19	Nov 20, 2015
Familial hyperinsulinism	21	Dec 2, 2020
Familial hypocalciuric hypercalcemia	24	Aug 18, 2011
Familial hypoplastic, glomerulocystic kidney	20	Aug 18, 2011
Familial isolated arrhythmogenic right ventricular dysplasia	12	Oct 6, 2020
Familial isolated deficiency of vitamin E	6	Mar 6, 2020
Familial isolated hypoparathyroidism	2	Aug 18, 2011
Familial multiple polyposis syndrome	37	Oct 6, 2020
Familial thoracic aortic aneurysm and aortic dissection	1	Mar 6, 2020
Fanconi anemia, complementation group C	19	Nov 10, 2020
Fanconi anemia, complementation group J	2	Feb 18, 2020
Finnish congenital nephrotic syndrome	27	Nov 10, 2020
Fucosidosis	5	Oct 6, 2020
Fukuyama congenital muscular dystrophy	7	Oct 6, 2020
Fumarase deficiency	1	Apr 24, 2019
GM1 gangliosidosis	11	Oct 6, 2020
GRACILE syndrome	3	Nov 10, 2020
Galactosylceramide beta-galactosidase deficiency	18	Nov 10, 2020
Gaucher disease	47	Dec 2, 2020
Generalized epilepsy with febrile seizures plus	3	Nov 20, 2015
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome	1	Apr 29, 2020
Glucose-6-phosphate transport defect	15	Dec 2, 2020
Glutaric aciduria, type 1	18	Mar 6, 2020
Gluthathione synthetase deficiency	5	Apr 29, 2020
Glycogen storage disease IIIa	6	Mar 6, 2020
Glycogen storage disease IIIb	1	Jan 25, 2018
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	19	Jul 1, 2020
Glycogen storage disease type III	20	Oct 6, 2020
Glycogen storage disease type IXa1	1	Apr 24, 2019
Glycogen storage disease, type II	77	Dec 2, 2020
Glycogen storage disease, type IV	1	May 13, 2020
Gonadotropin-independent familial sexual precocity	3	Aug 18, 2011
Gorlin syndrome	1	Dec 2, 2020
Hemochromatosis type 1	1	Apr 24, 2019
Hemoglobin D disease	1	Mar 6, 2020
Hemoglobinopathy	30	Aug 6, 2020
Hereditary Paraganglioma-Pheochromocytoma Syndromes	7	Dec 31, 2020
Hereditary breast and ovarian cancer syndrome	1040	Dec 31, 2020
Hereditary cancer-predisposing syndrome	10	Jan 25, 2018
Hereditary diffuse gastric cancer	9	Apr 29, 2020
Hereditary fructosuria	14	Dec 2, 2020
Hereditary leiomyomatosis and renal cell cancer	1	Jul 9, 2020
Hereditary melanoma	6	Dec 31, 2020
Hereditary nonpolyposis colon cancer	118	Dec 31, 2020
Hereditary pancreatitis	15	Dec 31, 2020
Hereditary sensory and autonomic neuropathy type IIC	1	Oct 6, 2020
Hereditary spastic paraplegia 12	1	Apr 24, 2019
Hereditary spastic paraplegia 3A	1	Mar 6, 2020
Hermansky-Pudlak syndrome	2	Nov 10, 2020
Hirschsprung disease 1	1	Aug 18, 2011
Histiocytic medullary reticulosis	5	May 13, 2020
Holocarboxylase synthetase deficiency	7	Sep 24, 2019
Holt-Oram syndrome	1	Mar 6, 2020
Homocystinuria	33	Dec 31, 2020
Hyper-IgE recurrent infection syndrome 1, autosomal dominant	11	Aug 18, 2011
Hyper-IgE syndrome	3	Apr 24, 2019
Hyper-IgM syndrome type 1	5	Nov 10, 2020
Hyper-IgM syndrome type 2	2	Aug 18, 2011
Hyper-IgM syndrome type 5	3	Aug 18, 2011
Hyperimmunoglobulin M syndrome	2	Mar 6, 2020
Hyperinsulinemic hypoglycemia, familial, 1	11	Apr 29, 2020
Hyperphenylalaninemia, non-pku	9	Jan 25, 2018
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)	1	Oct 6, 2020
Hypogonadotropic hypogonadism 14 with or without anosmia	1	Mar 6, 2020
Hypophosphatasia	18	Nov 10, 2020
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	2	Mar 6, 2020
IFN-gamma receptor 1 deficiency	1	Jan 25, 2018
Idiopathic growth hormone deficiency	4	Aug 18, 2011
Idiopathic nephrotic syndrome	15	Aug 6, 2020
Incontinentia pigmenti syndrome	1	Aug 6, 2020
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	1	Mar 6, 2020
Intellectual developmental disorder, autosomal recessive 72	1	Apr 29, 2020
Intellectual disability, autosomal dominant 47	1	Apr 24, 2019
Interferon gamma receptor deficiency	6	Aug 18, 2011
Joubert syndrome 2	2	Apr 24, 2019
Joubert syndrome 6	1	Sep 9, 2020
Joubert syndrome and related disorders	1	Mar 6, 2020
Junctional epidermolysis bullosa	5	Dec 31, 2020
Junctional epidermolysis bullosa gravis of Herlitz	15	May 13, 2020
Junctional epidermolysis bullosa, non-Herlitz type	4	Mar 6, 2020
Juvenile polyposis syndrome	8	Dec 2, 2020
Kleefstra syndrome 1	1	Dec 31, 2020
Kleefstra syndrome 2	1	Mar 6, 2020
L1 syndrome	3	Oct 6, 2020
Lamellar ichthyosis	1	Mar 6, 2020
Laminin alpha 2-related dystrophy	2	Mar 6, 2020
Laryngo-onycho-cutaneous syndrome	1	Mar 6, 2020
Leber congenital amaurosis	1	Aug 6, 2020
Legius syndrome	1	Apr 29, 2020
Leigh syndrome	24	Dec 2, 2020
Lethal multiple pterygium syndrome	1	Dec 31, 2020
Leukodystrophy, hypomyelinating, 6	1	Apr 24, 2019
Leukoencephalopathy with vanishing white matter	2	Sep 9, 2020
Li-Fraumeni syndrome	13	Dec 2, 2020
Limb-girdle muscular dystrophy, autosomal recessive	4	Dec 2, 2020
Loeys-Dietz syndrome	15	Mar 6, 2020
Long QT syndrome	31	Dec 31, 2020
Long QT syndrome 1	7	Sep 24, 2019
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency	15	Nov 10, 2020
Lynch syndrome	250	May 13, 2020
MEN2 phenotype: Unclassified	1	Jan 25, 2018
MYH-associated polyposis	28	Dec 2, 2020
MYO7A-Related Disorders	1	Dec 2, 2020
Macrocephaly, acquired, with impaired intellectual development	1	Aug 6, 2020
Malignant hyperthermia susceptibility	2	Jul 1, 2020
Malignant tumor of breast	16	Dec 31, 2020
Maple syrup urine disease	8	Oct 6, 2020
Maple syrup urine disease type 1A	6	Nov 10, 2020
Maple syrup urine disease type 1B	12	Aug 6, 2020
Maple syrup urine disease, type 3	3	Dec 31, 2020
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections	104	Dec 31, 2020
Marfan syndrome	89	Nov 27, 2018
Maturity onset diabetes mellitus in young	2	Dec 2, 2020
Maturity-onset diabetes of the young type 4	10	Nov 17, 2015
Maturity-onset diabetes of the young type 8	1	Aug 18, 2011
Maturity-onset diabetes of the young, type 1	23	Nov 17, 2015
Maturity-onset diabetes of the young, type 2	103	Sep 24, 2019
Maturity-onset diabetes of the young, type 3	41	Nov 17, 2015
Meckel syndrome, type 4	1	Dec 31, 2020
Medium-chain acyl-coenzyme A dehydrogenase deficiency	17	Nov 10, 2020
Menkes kinky-hair syndrome	1	May 13, 2020
Mental retardation and distinctive facial features with or without cardiac defects	1	Mar 6, 2020
Mental retardation with language impairment and with or without autistic features	3	Sep 9, 2020
Mental retardation, X-linked 102	1	May 13, 2020
Mental retardation, X-linked 98	1	Dec 31, 2020
Mental retardation, autosomal dominant 21	1	Jul 1, 2020
Mental retardation, autosomal dominant 31	1	Mar 6, 2020
Mental retardation, autosomal dominant 35	1	Apr 24, 2019
Mental retardation, autosomal dominant 6	1	Mar 6, 2020
Mental retardation, autosomal recessive 46	1	Dec 31, 2020
Mental retardation, with or without seizures, ARX-related, X-linked	1	Mar 6, 2020
Metachromatic leukodystrophy	32	Dec 31, 2020
Metaphyseal chondrodysplasia, McKusick type	39	Dec 31, 2020
Methylmalonic acidemia	49	Dec 2, 2020
Microcephaly, normal intelligence and immunodeficiency	14	Dec 2, 2020
Mitochondrial complex 1 deficiency, nuclear type 19	1	Oct 6, 2020
Mitochondrial complex 5 (atp synthase) deficiency, nuclear type 6	1	Oct 6, 2020
Mitochondrial trifunctional protein deficiency	5	Jul 9, 2020
Morquio syndrome	15	Dec 31, 2020
Mucolipidosis	12	Oct 6, 2020
Mucolipidosis type II	6	Mar 6, 2020
Mucolipidosis type IV	12	Aug 6, 2020
Mucopolysaccharidosis type 1	29	Dec 2, 2020
Mucopolysaccharidosis type 6	9	Nov 10, 2020
Mucopolysaccharidosis type 7	4	Aug 6, 2020
Mucopolysaccharidosis, MPS-II	5	Apr 24, 2019
Mucopolysaccharidosis, MPS-III-A	13	Jul 1, 2020
Mucopolysaccharidosis, MPS-III-B	13	Dec 31, 2020
Mucopolysaccharidosis, MPS-IV-B	7	Dec 2, 2020
Multiple acyl-CoA dehydrogenase deficiency	1	Mar 6, 2020
Multiple congenital exostosis	1	Apr 24, 2019
Multiple endocrine neoplasia, type 1	22	Apr 29, 2020
Multiple endocrine neoplasia, type 2a	6	May 13, 2020
Multiple sulfatase deficiency	7	Dec 2, 2020
Nemaline myopathy	38	Sep 9, 2020
Neonatal diabetes mellitus	28	Nov 17, 2015
Neonatal severe hyperparathyroidism	1	Nov 10, 2020
Nephrogenic diabetes insipidus	21	Nov 17, 2015
Nephronophthisis 4	1	Mar 6, 2020
Nephrotic syndrome, type 7	1	Dec 31, 2020
Neurodegeneration with brain iron accumulation	1	Dec 2, 2020
Neurodegeneration with brain iron accumulation 5	1	Mar 6, 2020
Neurodevelopmental disorder	1	Mar 6, 2020
Neurofibromatosis, type 1	15	Dec 31, 2020
Neurofibromatosis, type 2	2	Mar 6, 2020
Neuronal ceroid lipofuscinosis	21	Dec 31, 2020
Neuronal ceroid lipofuscinosis 1	5	Mar 6, 2020
Neuronal ceroid lipofuscinosis 3	6	Mar 6, 2020
Neuronal ceroid lipofuscinosis 5	4	Mar 6, 2020
Neuronal ceroid lipofuscinosis 8	1	May 13, 2020
Neutral 1 amino acid transport defect	1	Apr 29, 2020
Nicolaides-Baraitser syndrome	1	Mar 6, 2020
Niemann-Pick disease, type A	13	Dec 31, 2020
Niemann-Pick disease, type B	5	Jul 1, 2020
Niemann-Pick disease, type C	24	Dec 31, 2020
Nijmegen breakage syndrome-like disorder	1	Apr 24, 2019
Non-ketotic hyperglycinemia	17	Aug 6, 2020
Non-syndromic X-linked intellectual disability	1	Oct 22, 2020
Nonsyndromic Deafness	1	Mar 6, 2020
Noonan syndrome	4	Sep 24, 2019
Noonan syndrome 3	22	Sep 24, 2019
Noonan syndrome with multiple lentigines	2	Mar 6, 2020
O'Donnell-Luria-Rodan syndrome	1	Mar 6, 2020
Obesity	10	Nov 17, 2015
Ornithine carbamoyltransferase deficiency	11	Nov 10, 2020
Osteochondrodysplasia	15	Nov 10, 2020
Osteogenesis imperfecta	64	Sep 24, 2019
Osteopetrosis	4	Aug 6, 2020
Osteoporosis with pseudoglioma	1	Nov 17, 2015
POLR3-related leukodystrophy	1	Mar 6, 2020
PTEN hamartoma tumor syndrome	1	Dec 31, 2020
Palmoplantar keratoderma-deafness syndrome	1	Jan 25, 2018
Parathyroid carcinoma	1	Apr 24, 2019
Pendred syndrome	1	Apr 29, 2020
Peroxisome biogenesis disorders, Zellweger syndrome spectrum	53	Dec 31, 2020
Peutz-Jeghers syndrome	8	Dec 2, 2020
Phenylketonuria	114	Dec 31, 2020
Pheochromocytoma	2	Aug 18, 2011
Phosphoglycerate dehydrogenase deficiency	1	Jan 25, 2018
Pigmentary pallidal degeneration	1	Dec 2, 2020
Pili torti-deafness syndrome	1	Aug 6, 2020
Pituitary hormone deficiency, combined	5	Aug 18, 2011
Pneumothorax, primary spontaneous	3	Apr 24, 2019
Polyarteritis nodosa, childhoood-onset	1	Dec 2, 2020
Polyglandular autoimmune syndrome, type 1	18	Dec 31, 2020
Pontoneocerebellar hypoplasia	2	Mar 6, 2020
Postmenopausal osteoporosis	2	Aug 18, 2011
Pretibial epidermolysis bullosa	1	Mar 6, 2020
Primary autosomal recessive microcephaly	5	Apr 29, 2020
Primary congenital glaucoma	1	Apr 29, 2020
Primary dilated cardiomyopathy	8	Nov 20, 2015
Primary familial hypertrophic cardiomyopathy	56	Dec 2, 2020
Primary hyperoxaluria	17	Dec 2, 2020
Primary hyperoxaluria, type II	4	Mar 6, 2020
Progressive familial intrahepatic cholestasis	1	Apr 29, 2020
Propionic acidemia	25	Dec 31, 2020
Pseudo-Hurler polydystrophy	1	Jan 25, 2018
Pyruvate dehydrogenase complex deficiency	1	Jan 25, 2018
Rasopathy	71	Dec 2, 2020
Renal carnitine transport defect	20	Sep 9, 2020
Renal hypodysplasia/aplasia 3	1	Apr 29, 2020
Retinitis pigmentosa	2	Oct 6, 2020
Retinitis pigmentosa 59	1	Jan 25, 2018
Rett syndrome	36	Oct 22, 2020
Rhizomelic chondrodysplasia punctata type 1	8	Nov 10, 2020
Romano-Ward syndrome	2	Mar 6, 2020
Rubinstein-Taybi syndrome 1	1	Mar 6, 2020
SHORT syndrome	1	Mar 6, 2020
SIM1-Related Disorders	1	Dec 2, 2020
Salla disease	10	Dec 2, 2020
Sandhoff disease	13	Dec 2, 2020
Sanfilippo syndrome	16	Nov 10, 2020
Schwannomatosis	3	Oct 6, 2020
Severe Combined Immune Deficiency	8	Dec 31, 2020
Severe X-linked myotubular myopathy	1	Dec 2, 2020
Severe combined immunodeficiency disease	40	Mar 6, 2020
Severe combined immunodeficiency due to ADA deficiency	3	Jan 25, 2018
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	1	Mar 6, 2020
Severe myoclonic epilepsy in infancy	6	Jan 25, 2018
Short stature, brachydactyly, intellectual developmental disability, and seizures	1	Jul 1, 2020
Short stature, idiopathic, X-linked	5	Nov 17, 2015
Sialidosis	3	Apr 29, 2020
Sickle cell disease and related diseases	1	Mar 6, 2020
Sickle cell-Hemoglobin O Arab disease	1	Jan 25, 2018
Sjögren-Larsson syndrome	12	Sep 9, 2020
Skin creases, congenital symmetric circumferential, 2	1	Apr 24, 2019
Skraban-Deardorff syndrome	1	Apr 29, 2020
Smith-Lemli-Opitz syndrome	24	Dec 31, 2020
Sotos syndrome 2	2	Mar 6, 2020
Spastic paraplegia 46, autosomal recessive	2	Dec 31, 2020
Sphingomyelin/cholesterol lipidosis	3	Dec 2, 2020
Spinal muscular atrophy	6	Oct 6, 2020
Spinocerebellar ataxia 47	1	Mar 6, 2020
Spinocerebellar ataxia type 5	1	Mar 6, 2020
Spondylocostal dysostosis 1, autosomal recessive	1	Apr 24, 2019
Stargardt disease	2	Apr 29, 2020
Stickler syndrome	1	Apr 29, 2020
Supravalvar aortic stenosis	1	Dec 2, 2020
Tay-Sachs disease	38	Dec 2, 2020
Three M syndrome 2	1	Mar 6, 2020
Thyroid dyshormonogenesis 6	1	Apr 24, 2019
Trichothiodystrophy	1	Jul 1, 2020
Tuberous sclerosis syndrome	2	Apr 24, 2019
Turcot syndrome	2	Mar 6, 2020
Tyrosinemia type I	13	Nov 10, 2020
Usher Syndrome, Type III	4	Apr 24, 2019
Usher syndrome	7	Dec 2, 2020
Usher syndrome type 1F	7	Jul 1, 2020
Verheij syndrome	1	Mar 6, 2020
Very long chain acyl-CoA dehydrogenase deficiency	18	Dec 2, 2020
Von Hippel-Lindau syndrome	58	Nov 10, 2020
Wilson disease	124	Dec 31, 2020
Wiskott-Aldrich syndrome	13	Sep 9, 2020
X-Linked Lymphoproliferative Syndrome	2	Apr 24, 2019
X-linked agammaglobulinemia	30	Mar 6, 2020
X-linked severe combined immunodeficiency	12	Oct 6, 2020
X-linked severe congenital neutropenia	1	Dec 31, 2020
X-linked thrombocytopenia with normal platelets	3	Jan 25, 2018
Xeroderma pigmentosum	26	Dec 31, 2020
beta Thalassemia	84	Nov 10, 2020
not provided	3134	Nov 27, 2018
not specified	9269	Dec 31, 2020

ClinVar

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Integrated Genetics/Laboratory Corporation of America (Laboratory Corporation of America), IG

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